Canonical Allele Identifier: CA342147
Gene: CHMP2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87253711G>A , CM000665.2:g.87253711G>A GRCh38
NC_000003.11:g.87302861G>A , CM000665.1:g.87302861G>A GRCh37
NC_000003.10:g.87385551G>A NCBI36
NG_007885.1:g.31449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263780.9:c.532-1G>A MANE Select ENSP00000263780.4:n.532-1G>A
ENST00000472024.3:c.580-1G>A ENSP00000480032.2:n.580-1G>A
ENST00000676705.1:c.580-1G>A ENSP00000504098.1:n.580-1G>A
ENST00000677929.1:n.4196-1G>A
ENST00000678859.1:n.4281-1G>A
ENST00000263780.8:c.532-1G>A ENSP00000263780.4:n.532-1G>A
ENST00000466696.1:n.463-1G>A
ENST00000471660.5:c.409-1G>A ENSP00000419998.1:n.409-1G>A
ENST00000494980.5:c.442-1G>A ENSP00000418920.1:n.442-1G>A
NM_001244644.1:c.409-1G>A NP_001231573.1:n.409-1G>A
NM_014043.3:c.532-1G>A NP_054762.2:n.532-1G>A
XM_011533576.1:c.580-1G>A XP_011531878.1:n.580-1G>A
XM_011533576.2:c.580-1G>A XP_011531878.1:n.580-1G>A
NM_014043.4:c.532-1G>A MANE Select NP_054762.2:n.532-1G>A
NM_001244644.2:c.409-1G>A NP_001231573.1:n.409-1G>A